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progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

ORPHA: 477814

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, sourced from HPO and Orphanet clinical annotations.

Progressive microcephalyHypoplastic optic chiasmSeizureGlobal developmental delayProfound intellectual disabilityCerebral visual impairmentRecurrent infectionsShort statureDecreased body weightOptic atrophyDelayed pubertyHypotoniaFailure to thrive in infancyBronchiectasisLymphomaSkeletal muscle atrophyCombined immunodeficiencyMetopic synostosisB-cell lymphomaBrain atrophyDecreased CD4+ T cell proportionThin corpus callosum

Classification & Codes

Orphanet Code

ORPHA:477814
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
OrphanetORPHA:477814
Treatments0 drug(s)
Symptoms on record22 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome | OrphanDrug